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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG:4 messages
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Wed, 19 Feb 1997 08:12:07 +1410

**************************************************************
           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains 4 submessage(s):

1) Mouse tumorigenesis

2) Antithronbin-III deficiency

3) Jacobsen Syndrome

4) Syndromic association with Crohn's disease



Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section

**************************************************************
1) Mouse tumorigenesis

Dear colleagues,

Recently I have obtained a mouse chromosomal localization for a gene (named
XX) which is involved in tumorigenesis in man. Because of the presence of a
previously mapped (but still unknown) susceptibility gene in this
chromosomal area, the gene XX is a good candidate for genes involved in
susceptibility to cancer in mice.
To test this gene, I am now looking for collaboration with people involved
in study of tumorigenesis in mice and that have suitable mice.
Any information on this topic will be useful.

Thanking you in advance,
Best regards

Dominique Rocha

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* | | | *       * | | | * | | | *       * | | | * | | | *
  '***'           '***'   '***'           '***'   '***'

Dominique ROCHA

Centre d'Immunologie de Marseille-Luminy (CIML)

Parc Scientifique de Luminy - Case 906
13288 Marseille cedex 9 - France

Tel.   : (33) 4 91 26 94 82
Fax    : (33) 4 91 26 94 30
E-mail : rocha@ciml.univ-mrs.fr
===========================================================
2) Antithronbin-III deficiency

A colleague of mine has identified a family in Spain with hereditary
antithrombin-III-deficiency. We would like to study the mutation causing
the disease.

Does anyone know of any group working on this condition (gene)?.

Thanks in advance!

e-mail: jose.dieguez@helsinki.fi

Jose L. Dieguez

Lab:
Folkhalsan Institute of Genetics
Folkhalsan Seniorhuset (Tutkimuskeskus)
Mannerheimintie 97, 2-krs
00280-Helsinki (Finland)

Tel.: 358-9-61585  559/565

Private:
Amiraalinkatu 2C, 35
00160-Helsinki (Finland)

Tel.: 358-9-626203

==========================================================

3) Jacobsen Syndrome

Pivnik et al (J.Med Genet. 1996, 33:772-778) reported a case
Jacobsen syndrome in whom a brain stem auditory evoked response
indicated moderate bilateral hearing loss. In other reports
and reviews on Jacobsen syndrome that I have come across
there are no indications of any hearing loss. The possible
explanations are a) that hearing loss is not a common
feature of this disorder b) that moderate hearing loss has
not been assessed in these patients or c) that hearing loss
is secondary to the craniofacial abnormalities and varies
according to the severity. I would appreciate any comments or
information.

David C. Hughes,
MRC Institute of Hearing Research,
University Park,
University of Nottingham,
Nottingham
UK
NG7 2RD

email: davidh@ihr.mrc.ac.uk



=======================================================
4) Syndromic association with Crohn's disease

Dear Colleagues,

   I am interested in genetic aspects of Crohn's disease.  I'll be very happy if
 you would generously tell me about any disorder that has a syndromic associatio
n with Crohn's disease.  I have read a report on a syndrome of Crohn's disease a
ssociated with pachydermoperiostosis (Gastroenterology 1997:112,241).
Thanks in advance.

Nobuyuki Matsuhashi, M.D.
nmatuha-tky@umin.u-tokyo.ac.jp
The Third Department of Internal Medicine,
Faculty of Medicine, University of Tokyo.
7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan.
phone: 81-3-3815-5411 ext 3112
fax: 81-3-5802-8875


   
 
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